Publications by authors named "Maria A Donati"

Article Synopsis
  • Clinical pathway recommendations (CPR) provide guidance on managing specific diagnoses, in this case, Pompe disease, a metabolic disorder caused by a deficiency in a specific enzyme.
  • The CPR document was created by a working group from MetabERN, which focuses on metabolic diseases, and involved systematic literature searches and quality assessments based on established methodologies.
  • This document aims to standardize care for Pompe disease patients by addressing various aspects including pathophysiology, diagnosis, treatment, and follow-up strategies for healthcare providers.
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Background: Accurate knowledge of disabilities is connected to social acceptance and a high chance of initiating and facilitating meaningful social interactions with students with disabilities. The present study investigated the effect of type of disability and school grade level on knowledge of the causes of four disabilities (i.e.

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Materialism is an attitude that considers material goods to be central in life. Nowadays, adolescents appear to have a high level of materialism, which is related to risky behaviors. Nevertheless, there is a lack of measurement tools with adequate psychometric properties to assess materialism in this age group.

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Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants.

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Objective: Loot boxes (LBs) are virtual items embedded within video games that contain randomly generated in-game prizes. LB use can become risky, so it is important to have good measurement instruments, especially among adolescents, who are particularly involved in video gaming and LB purchasing. The present study analyses the adequacy of the (RLI; Brooks & Clark, 2019) by applying item response theory (IRT).

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To be effective in the prevention of adolescent problem gambling, it is fundamental to enhance knowledge about the antecedents of gambling problem severity and the mechanisms through which these dimensions are related to problematic gambling behavior. This study aimed at testing how selected cognitive (correct knowledge of gambling and gambling-related cognitive distortions) and affective (positive economic perception of gambling and expectation and enjoyment and arousal towards gambling) variables are related to gambling frequency and gambling problem severity. Problem gambling was conceptualized as Gambling Disorder symptoms according to the last edition of the DSM.

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Background: Craving plays an important role in behavioural addictions such as Gambling Disorder (GD). However, it has only been included as a diagnostic criterion for substance addiction. Moreover, research on craving has focused mainly on adults, leaving out adolescents who can also be heavily involved in gambling behaviour.

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Background: GD and ASMD are lysosomal storage disorders that enter into differential diagnosis due to the possible overlap in their clinical manifestations. The availability of safe and effective enzymatic therapies has recently led many investigators to develop and validate new screening tools, such as algorithms, for the diagnosis of LSDs where the lack of disease awareness or failure to implement newborn screening results in a delayed diagnosis.

Results: the proposed algorithm allows for the clinical and biochemical differentiation between GD and ASMD.

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The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for the intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential for normal growth and development. Systemic deficiency of these elements, either occurring from nutritional causes or genetic defects, is associated with neurological disorders, growth delay, skin and hair changes, metabolic and immunological abnormalities. A few patients with biallelic variants of SLC5A6 have been reported, exhibiting a spectrum of neurological and systemic clinical features with variable severity.

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Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and <8.5 kg has been reported in clinical trials. This study examines efficacy and safety predictors in a wide age (22 days-72 months) and weight (3.

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The validation and psychometric properties of the (IOSPS-HW) were presented. This is a new measure to assess individual factors related to the health and well-being of individuals, such as family and personal relationships, as well as organizational factors related to the management of the pandemic, including workplace relationships, job management and communication. Across two studies conducted at different time points of the pandemic, psychometric evidence of the IOSPS-HW is presented.

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Article Synopsis
  • Acid sphingomyelinase deficiency (ASMD) is a really rare disease, and there’s still a lot we don’t know about it, especially in different places like Italy.
  • Experts came together to share their opinions and gather information on how to understand and manage ASMD better, focusing on things like patient needs and diagnosis.
  • They agreed on many important topics during the discussions, which can help improve care for ASMD patients in Italy.
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Article Synopsis
  • Advances in gene sequencing have highlighted the diverse clinical forms of RYR1-related myopathy (RYR1-RM), making diagnosis challenging.
  • Researchers developed a novel unsupervised cluster analysis method to better understand RYR1-RM by analyzing genetic, morphological, and clinical data from 600 patients, specifically focusing on 73 with genetic variants.
  • The analysis categorized 64 patients into four distinct clusters based on their clinical and morphological traits, revealing that many had mild or no symptoms and improving the understanding of genotype-phenotype correlations.
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Introduction: Nowadays, most of the research studies in the field of adolescent gambling are focused on individual factors related to problem gambling. The aim of this study was to test an integrated model to explain adolescent problem gambling involving both individual (i.e.

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Background: Spinal muscular atrophy (SMA) is due to the homozygous absence of in around 97% of patients, independent of the severity (classically ranked into types I-III). The high genetic homogeneity, coupled with the excellent results of presymptomatic treatments of patients with each of the three disease-modifying therapies available, makes SMA one of the golden candidates to genetic newborn screening (NBS) (SMA-NBS). The implementation of SMA in NBS national programmes occurring in some countries is an arising new issue that the scientific community has to address.

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Loot Boxes (LBs), i.e., virtual items embedded within video games with numerous features reminiscent of gambling, are increasingly widespread among adolescents.

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Background: The aim of the study was to evaluate the levels of depression, state and trait anxiety, self-efficacy, and self-esteem among women with high-risk pregnancy due to previous adverse pregnancy outcomes (PAPOs) or prepregnancy diseases (PPD), before and after delivery, compared to controls.

Methods: An observational longitudinal study on psychological dimensions was conducted on 86 women attending a university referral center for high-risk pregnancy, by administering the Edinburgh Postnatal Depression Scale, the State and Trait Anxiety Inventory, the General Self-Efficacy Scale, and the Self-esteem Scale. A pretest (in the third trimester of pregnancy) and a follow-up measurement session (one month after the delivery) were applied.

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Orphan drugs are used for the diagnosis, prevention and treatment of rare diseases that, in the European Union, are defined as disorders affecting no more than 5 persons in 10,000. So far, a total of around 800 orphan medicinal products have been approved by the European Medicines Agency, however the utilization profile of orphan drugs has yet to be explored. This study aimed at assessing the utilization profile of orphan drugs authorized for marketing by the Italian Medicines Agency using population-based data.

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Although some studies have been conducted on gambling behaviour in the general population or in clinical samples during the COVID-19 pandemic, less attention has been focused on Affected Family Members (AFMs) of disordered gamblers. To fill this gap, this study investigated the psychological state of disordered gamblers' AFMs during the COVID-19 lockdown in Italy, the European country first affected by the virus and with the largest gambling market. We were interested in understanding if the unavailability of most land-based gambling offerings during the lockdown created a sense of relief in AFMs.

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In the field of adolescent gambling prevention, there is a lack of intervention studies reporting and assessing training courses for the intervention providers. The present work fills this gap by realizing a dissemination study inside the PRIZE program aimed at modifying a set of cognitive protective factors and affective risk factors. The purpose of this work was twofold: To develop and evaluate a training course with the intervention providers (Study 1), and to assess the short- and long-term effects of the intervention itself (Study 2).

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Unlabelled: The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study was to use the Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed for floppy infants to assess the possible variability of neurological findings in infants identified through neonatal screening. The infants included in this study were identified as part of a pilot study exploring neonatal screening in two Italian regions.

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Cognitive behavioral therapy (CBT) is the most successful protocol in gambling disorder (GD) treatment. However, it presents some weaknesses, especially concerning relapse prevention (RP). RP is one of the most important therapeutic steps, aiming at managing cravings and to avoid future relapse increasing perceived self-efficacy.

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Background: Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without treatment, patients die of cardiorespiratory failure in their first 1-2 years of life. Enzymatic replacement therapy (ERT) with alglucosidase alfa is the only available treatment, but adverse immune reactions can reduce ERT's effectiveness and safety. It is therefore very important to identify strategies to prevent and manage these complications.

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The insulin-like growth factor-1 (IGF-1) signaling pathway is crucial for the regulation of growth and development. The correct processing of the IGF-1Ea prohormone (proIGF-1Ea) and the IGF-1 receptor (IGF-1R) peptide precursor requires proper N-glycosylation. Deficiencies of N-linked glycosylation lead to a clinically heterogeneous group of inherited diseases called Congenital Disorders of Glycosylation (CDG).

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A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a cause of primary 3-hydroxyisobutyric aciduria in two siblings; the only previously recognized primary cause had been a deficiency of methylmalonic semialdehyde dehydrogenase, the enzyme that is immediately downstream of HIBADH in the valine catabolic pathway and is encoded by the ALDH6A1 gene. Here we report on three additional patients from two unrelated families who present with marked and persistent elevations of urine L-3-hydroxyisobutyric acid (L-3HIBA) and a range of clinical findings. Molecular genetic analyses revealed novel, homozygous variants in the HIBADH gene that are private within each family.

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